rs727504412, JAG1

N. diseases: 3
Disease: Congenital Heart Defects ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
0.700 CausalMutation CLINVAR Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272 2005
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
0.700 CausalMutation CLINVAR DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286 2002
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
0.700 CausalMutation CLINVAR Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 10220506 1999
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
0.700 CausalMutation CLINVAR Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788 1997